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Pure partial trisomy 6p due to a familial insertion (16;6)(p12;p21.2p23)

✍ Scribed by María G. Domínguez; Luis E. Wong-Ley; Horacio Rivera; Ana I. Vásquez; Alma L. Ramos; Rocío Sánchez-Urbina; J.A. Morales; Luis E. Figuera

Book ID
113987320
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
191 KB
Volume
46
Category
Article
ISSN
0003-3995

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Cytogenetic findings in a case of partial trisomy 6p due to a translocation t(6;20)(p21;p13) and eleven balanced translocation heterozygotes are described. The clinical data of the proposita are compared with those of five other published cases. A partial trisomy 6p syndrome is postulated, character

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We report on two brothers with low birth weight, growth retardation, microcephaly, minor facial anomalies, mental retardation, and trisomy (6)(p23→pter) due to a maternal t(6;17)(p23;p13.3). As demonstrated by fluorescent in situ hybridisation (FISH) with the Miller-Dieker cosmid probe (D17S379) and

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